Genetic characteristics of newborn thalassemia in Huaihua
Objective To understand the genotypes of neonatal thalassemia in Huaihua City from 2020 to 2022.Methods A retrospective analysis was performed on 46 931 newborns screened for thalassemia from January 2020 to December 2022 in Huaihua City.Results 4443 cases were positive in preliminary screening,2153 cases were recalled,and 1536 cases were confirmed with thalassemia gene.There were 1077 cases(70.12%)of α-thalassemia diagnosed by gene.431(28.06%)cases of β-thalassemia;Intermediate α-thalassemia(4 cases);The clinical phenotypes were mainly static α-thalassemia,mild α-thalassemia and mild β-thalassemia.Conclusion The neonatal thalassemi in huaihua city is mainly α-thalassemia,and the rest type and mild type are more common.The gene carrying rate of newborn thalassemia in Huaihua City is higher than the national average level,the regional distribution is uneven,and the situation of thalassemia prevention and control is serious.
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